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Interesting Case of Lung Fibrosis in a Patient With Vascular Ehlers Danlos Syndrome
Alicia Su Huey Kwan1, Viral Nanda1, Taleea Younas1
1Wythenshawe Hospital Manchester University NHS Foundation Trust Manchester UK.
Abstract:
A 39-year-old man with recurrent spontaneous (including bilateral) pneumothoraces and haemoptysis had unusual thoracic computed tomography (CT) abnormalities. In the absence of typical phenotypic features, these radiological findings prompted genetic testing, which confirmed a pathogenic COL3A1 mutation and established the diagnosis of vascular Ehlers-Danlos syndrome. Recognizing these radiological patterns prevents misdiagnosis and enables crucial, potentially life-saving vascular management.
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